Novel variants of the PCCB gene in Chinese patients with propionic acidemia-Reference-Cited by-同舟云学术

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Novel variants of the PCCB gene in Chinese patients with propionic acidemia

Published:2021-08 Issue: Volume:519 Page:18-25
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Yang Xiaoxuan,Li Dongyan,Tu Chaofeng,He Wenbing,Meng Lanlan,Tan Yue-Qiu,Lu Guangxiu,Du Juan,Zhang Qianjun

Funder

Changsha Science and Technology Bureau

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference28 articles.

1. Inherited propionyl-Coa carboxylase deficiency in “ketotic hyperglycinemia”;Hsia;J. Clin. Investig.,1971

2. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia;Al-Hamed;Mol. Genet. Metab. Rep.,2019

3. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry;Dionisi-Vici;J. Inherit. Metab. Dis.,2006

4. Propionic acidemia: Unusual course with late onset and fatal outcome;Lucke;Metab.-Clin. Exp.,2004

5. Establishing gas chromatography - mass spectrometry to diagnose organic acidemias in Thailand;Srivuthana;Southeast Asian J. Trop. Med. Public Health,2000

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prevalence of propionic acidemia in China;Orphanet Journal of Rare Diseases;2023-09-09

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